Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...

introduction:to evaluate the role of allergic-type and infectious-type cytokines in children with chronic otitis media with effusion (ome) materials and methods:we investigated serum levels of interleukins (il)-4, il-5, and il-13, along with interferon-gamma (ifn-γ) and tumor necrosis factor-alpha (tnf-α), by enzyme-linked immunosorbent assay (elisa) in 35 children with ome and 28 healthy contr...

This research was designed for study the effect of rheumatoid arthritis diseases on Leptin hormone and some immunological parameters (Interleukins), involve 58 blood sample from 48 individual with compared 10 healthy having no any health problems considered them as control group .
 The estimation secretes cytokines by leukocytes interleukins (IL-1 α IL- 6 ) done using Enzyme Linked Immuno ...

AIM To evaluate the nature of accelerated fibrinolysis in hepatosplenic schistosomiasis. METHODS The biological activity of plasminogen (Plg), plasminogen activators (PA), alpha 2-antiplasmin (alpha 2-AP) and plasminogen activator inhibitor-1 (PAI-1) was determined by photometric analysis in 15 compensated and 35 decompensated patients with endemic Egyptian hepatosplenomegaly. Quantitative me...

The 22q11 deletion syndrome (22q11DS), or velocardiofacial/DiGeorge syndrome, is considered to be the second most known genetic cause of congenital heart disease (CHD).1 Our aim was to evaluate the effectiveness of different screening methods for 22q11DS in patients with CHD. Our study evaluated a consecutive sample of patients with CHD hospitalized for the first time in a pediatric and cardiac...

AIMS To determine whether aortic adventitial chronic inflammation associated with advanced atherosclerosis ("chronic periaortitis") is associated with any detectable cytokine gene expression. METHODS RNA was extracted from six fresh surgical specimens of atherosclertic aortic aneurysm wall showing a spectrum of chronic periaortitis. Controls included four normal aortas and an HUT 78 T cell li...

OBJECTIVE It has not been clear that Voluven (6% hydroxyethyl starch 130/0.4) may be administered in pediatric patients safely. The purpose of this study was to determine if Voluven could be used for blood volume expansion and hypovolemia prevention in pediatric patients with congenital heart disease. PATIENTS AND METHODS 50 pediatric patients with congenital heart disease were recruited in t...

BACKGROUND The GATA4 gene is critical to regulating myocardial differentiation and function. Haploinsufficiency of GATA4 is strongly associated with congenital heart defects (CHD). However, it is inconclusive whether duplicated GATA4 causes CHD. METHODS AND RESULTS We evaluated 1645 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based compara...